V90L (p.Val90Leu) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
V90L (p.Val90Leu) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
V90L (p.Val90Leu) variant details
- p.Val90Leu
- 1000Genomes rs191669572
- ESP rs191669572
- ExAC rs191669572
- TOPMed rs191669572
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.06
- CADD 16.10
- PolyPhen-2 0.19
- SIFT 0.47
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available